ClinVar Miner

Submissions for variant NM_001232.4(CASQ2):c.731A>G (p.His244Arg) (rs28730716)

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Total submissions: 14
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Biesecker Lab/Clinical Genomics Section,National Institutes of Health RCV000037146 SCV000050814 benign not specified 2013-06-24 criteria provided, single submitter research
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000037146 SCV000060803 benign not specified 2012-04-25 criteria provided, single submitter clinical testing
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics RCV000037146 SCV000111495 benign not specified 2013-06-10 criteria provided, single submitter clinical testing
GeneDx RCV000037146 SCV000167531 benign not specified 2012-03-19 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Ambry Genetics RCV000243545 SCV000319118 benign Cardiovascular phenotype 2015-03-23 criteria provided, single submitter clinical testing This alteration is classified as benign based on a combination of the following: population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.
Illumina Clinical Services Laboratory,Illumina RCV000625053 SCV000347681 likely benign Ventricular tachycardia, catecholaminergic polymorphic, 2 2017-04-27 criteria provided, single submitter clinical testing This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). Publications were found based on this search. The evidence from the literature, in combination with allele frequency data from public databases where available, was sufficient to determine this variant is unlikely to cause disease. Therefore, this variant is classified as likely benign.
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics RCV000430947 SCV000511177 benign not provided 2016-07-22 criteria provided, single submitter clinical testing
Invitae RCV000268521 SCV000559571 benign Catecholaminergic polymorphic ventricular tachycardia 2020-12-04 criteria provided, single submitter clinical testing
Genome Diagnostics Laboratory,University Medical Center Utrecht RCV000625053 SCV000743628 benign Ventricular tachycardia, catecholaminergic polymorphic, 2 2014-10-09 criteria provided, single submitter clinical testing
DNA and Cytogenetics Diagnostics Unit,Erasmus Medical Center RCV000625053 SCV000744944 benign Ventricular tachycardia, catecholaminergic polymorphic, 2 2015-09-21 criteria provided, single submitter clinical testing
CHEO Genetics Diagnostic Laboratory,Children's Hospital of Eastern Ontario RCV000768702 SCV000900072 benign Cardiomyopathy 2015-09-17 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories RCV000625053 SCV001159262 benign Ventricular tachycardia, catecholaminergic polymorphic, 2 2019-05-21 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV000029424 SCV000052074 benign Cardiac arrhythmia 2015-04-29 no assertion criteria provided clinical testing
Stanford Center for Inherited Cardiovascular Disease, Stanford University RCV000037146 SCV000280062 uncertain significance not specified 2015-10-05 no assertion criteria provided clinical testing Note this variant was found in clinical genetic testing performed by one or more labs who may also submit to ClinVar. Thus any internal case data may overlap with the internal case data of other labs. The interpretation reviewed below is that of the Stanford Center for Inherited Cardiovascular Disease. Given this variants presence in a general population sample we consider this a variant of uncertain significance. A polar, positive Histidine is replaced with a polar positive Arginine at position 244 of CASQ2 gene, no net charge change. Other variants in this gene have been associated with CPVT and ARVC. It is listed in dbSNP with a minor allele frequency of 0.02 in the HapMap/1000 genomes YRI sample of 25 individuals from Nigeria. This minor allele frequency would suggest that approximately 1 in 2500 individuals in this population would be homozygotes. The prevalence of CPVT has been estimated at 1/10,000.

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